Canonical Allele Identifier: CA387765671

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1708988
• ClinVar RCV Id: RCV003607437
• dbSNP Id: rs2137663473
• MyVariant Identifiers: chr13:g.32972399C>T (hg19) ; chr13:g.32398262C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398262C>T , CM000675.2:g.32398262C>T	GRCh38
NC_000013.10:g.32972399C>T , CM000675.1:g.32972399C>T	GRCh37
NC_000013.9:g.31870399C>T	NCBI36
NG_012772.3:g.87783C>T , LRG_293:g.87783C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*272C>T	ENSP00000434898.2:n.*272C>T
ENST00000528762.2:c.*1116C>T	ENSP00000433168.2:n.*1116C>T
ENST00000530893.7:c.9380C>T	ENSP00000499438.2:p.Ser3127Leu
ENST00000665585.2:c.*1311C>T	ENSP00000499570.2:n.*1311C>T
ENST00000700202.2:c.9698C>T	ENSP00000514856.2:p.Ser3233Leu
ENST00000700202.1:c.2165C>T	ENSP00000514856.1:p.Ser722Leu
ENST00000700203.1:n.1876C>T
ENST00000380152.8:c.9749C>T MANE Select	ENSP00000369497.3:p.Ser3250Leu
ENST00000544455.6:c.9749C>T	ENSP00000439902.1:p.Ser3250Leu
ENST00000614259.2:c.9757C>T	ENSP00000506251.1:n.9757C>T
ENST00000680887.1:c.9749C>T	ENSP00000505508.1:p.Ser3250Leu
ENST00000380152.7:c.9749C>T	ENSP00000369497.3:p.Ser3250Leu
ENST00000470094.1:c.832C>T
ENST00000533776.1:n.337C>T
ENST00000544455.5:c.9749C>T	ENSP00000439902.1:p.Ser3250Leu
NM_000059.3:c.9749C>T , LRG_293t1:c.9749C>T	NP_000050.2:p.Ser3250Leu
XM_011535203.1:c.9749C>T	XP_011533505.1:p.Ser3250Leu
XM_011535204.1:c.9653C>T	XP_011533506.1:p.Ser3218Leu
NM_000059.4:c.9749C>T MANE Select	NP_000050.3:p.Ser3250Leu